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rs386834129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834129(A;A)
Make rs386834129(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position1771100
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834129
ebirs386834129
HLIrs386834129
Exacrs386834129
Varsomers386834129
Maprs386834129
PheGenIrs386834129
hapmaprs386834129
1000 genomesrs386834129
hgdprs386834129
ensemblrs386834129
gopubmedrs386834129
geneviewrs386834129
scholarrs386834129
googlers386834129
pharmgkbrs386834129
gwascentralrs386834129
openSNPrs386834129
23andMers386834129
23andMe allrs386834129
SNP Nexus

SNPshotrs386834129
SNPdbers386834129
MSV3drs386834129
GWAS Ctlgrs386834129
Max Magnitude0
ClinVar
Risk rs386834129(A;A)
Alt rs386834129(A;A)
Reference rs386834129(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1719266C>A
CLNSRC ClinVar
CLNACC RCV000050122.1,


[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.